Spinal deformity and disability in patients with Rett syndrome

Rett syndrome is a neurodevelopmental disorder starting in early childhood with devastating consequences both on the brain and on systemic neurons. Scoliosis is a common complication in most of these patients. The aim of the study was to describe the prevalence of scoliosis, classify spinal deformity, and evaluate the association between disability and scoliosis in patients with Rett syndrome.

Twenty-nine female patients, mean age 14 years 8 months (range 4 y 10 mo-33 y) were included. Outcome parameters were the Barthel Index for evaluation of function, pain, analgesics, and radiological evaluation of the spine including curve size (Cobb's method) and curve type. None of the patients had surgery before assessment.

Twenty-five (87%) patients had radiographically verified scoliosis. The median curve was 41° (range 15-77). The curve was classified as C-shaped (neuromuscular) in 16 patients and double curve-shaped in nine. Function was poorer in patients with C-shaped curve (p<0.01). Walking on a level surface (r=0.9) and the ability to ascend or descend stairs (r=0.8) were highly correlated with the Barthel Index. Curve size was moderately correlated with function (r=0.5).

Function level in females with Rett syndrome measured according to the Barthel Index showed significant correlation to scoliosis curve type. A low score was associated with a C-shaped curve involving all of the spine and pelvis.